CDC5L (cell division cycle 5 like) - Rat Genome Database

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Gene: CDC5L (cell division cycle 5 like) Homo sapiens
Analyze
Symbol: CDC5L
Name: cell division cycle 5 like
RGD ID: 731949
HGNC Page HGNC
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and WD40-repeat domain binding activity. Involved in DNA damage checkpoint signaling; mRNA splicing, via spliceosome; and positive regulation of transcription by RNA polymerase II. Located in nuclear speck. Part of Prp19 complex; U2-type catalytic step 2 spliceosome; and cytoplasm. Colocalizes with DNA replication factor A complex. Implicated in osteosarcoma. Biomarker of esophagus adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDC5; CDC5 (cell division cycle 5, S. pombe, homolog)-like; CDC5 cell division cycle 5-like; CDC5-LIKE; Cdc5-related protein; CEF1; Cell division cycle 5, S. pombe, homolog-like; cell division cycle 5-like (s. pombe); cell division cycle 5-like protein; dJ319D22.1; dJ319D22.1 (CDC5-like protein); hCDC5; KIAA0432; PCDC5RP; pombe cdc5-related protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl644,387,706 - 44,450,425 (+)EnsemblGRCh38hg38GRCh38
GRCh38644,387,706 - 44,450,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37644,355,443 - 44,418,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36644,463,280 - 44,522,758 (+)NCBINCBI36hg18NCBI36
Build 34644,463,279 - 44,522,757NCBI
Celera645,908,480 - 45,967,835 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef644,077,869 - 44,140,670 (+)NCBIHuRef
CHM1_1644,358,890 - 44,421,686 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8917598   PMID:9038199   PMID:9455477   PMID:9468527   PMID:9598309   PMID:9632794   PMID:9731529   PMID:10570151   PMID:10827081   PMID:11082045   PMID:11101529   PMID:11329013  
PMID:11544257   PMID:11991638   PMID:12168954   PMID:12477932   PMID:12840015   PMID:12927788   PMID:14515018   PMID:14574404   PMID:14576297   PMID:14702039   PMID:14729942   PMID:15232106  
PMID:15324660   PMID:15489334   PMID:15660529   PMID:15840729   PMID:16159877   PMID:16216881   PMID:16223718   PMID:16332694   PMID:16341674   PMID:17043677   PMID:17081983   PMID:17148452  
PMID:17276391   PMID:17332742   PMID:17353931   PMID:18029348   PMID:18330920   PMID:18583928   PMID:18722174   PMID:19240061   PMID:19274049   PMID:19454010   PMID:19633697   PMID:19641227  
PMID:19946888   PMID:20020773   PMID:20176811   PMID:20211142   PMID:20360068   PMID:20467437   PMID:20508642   PMID:20595234   PMID:21036905   PMID:21081503   PMID:21081666   PMID:21145461  
PMID:21385873   PMID:21536736   PMID:21639856   PMID:21873635   PMID:21907836   PMID:21988832   PMID:22174317   PMID:22365833   PMID:22446626   PMID:22681889   PMID:22751105   PMID:22763110  
PMID:22939629   PMID:22940584   PMID:22941190   PMID:22944692   PMID:22990118   PMID:23022480   PMID:23084401   PMID:23125841   PMID:23455922   PMID:24269683   PMID:24332808   PMID:24457600  
PMID:24550385   PMID:24591637   PMID:24598747   PMID:24675469   PMID:24711643   PMID:24755837   PMID:24778252   PMID:25064007   PMID:25192599   PMID:25315684   PMID:25416956   PMID:25798074  
PMID:25921289   PMID:25948554   PMID:26130721   PMID:26186194   PMID:26209609   PMID:26344197   PMID:26490980   PMID:26496610   PMID:26511642   PMID:26553251   PMID:26641092   PMID:26687479  
PMID:26777405   PMID:26831064   PMID:26979993   PMID:27025967   PMID:27049334   PMID:27248496   PMID:27591049   PMID:27634302   PMID:27684187   PMID:27880917   PMID:28076346   PMID:28242625  
PMID:28302793   PMID:28387715   PMID:28431233   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28666352   PMID:28675297   PMID:28977666   PMID:29229926   PMID:29298432  
PMID:29331416   PMID:29395067   PMID:29467282   PMID:29507755   PMID:29773831   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29871935   PMID:29884807   PMID:29991511   PMID:30021884  
PMID:30209976   PMID:30320910   PMID:30404004   PMID:30415952   PMID:30462309   PMID:30463901   PMID:30804502   PMID:30833792   PMID:30890647   PMID:30940648   PMID:30948266   PMID:31048545  
PMID:31076518   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31413325   PMID:31478661   PMID:31586073   PMID:31665637   PMID:31822558   PMID:31980649   PMID:32041737   PMID:32051553  
PMID:32129710   PMID:32296183   PMID:32416067   PMID:32460013   PMID:32526706   PMID:32572027   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32850835   PMID:32994395   PMID:33301849  
PMID:33306668   PMID:33361760   PMID:33536335   PMID:33731348   PMID:33742100   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
CDC5L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl644,387,706 - 44,450,425 (+)EnsemblGRCh38hg38GRCh38
GRCh38644,387,706 - 44,450,425 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37644,355,443 - 44,418,162 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36644,463,280 - 44,522,758 (+)NCBINCBI36hg18NCBI36
Build 34644,463,279 - 44,522,757NCBI
Celera645,908,480 - 45,967,835 (+)NCBI
Cytogenetic Map6p21.1NCBI
HuRef644,077,869 - 44,140,670 (+)NCBIHuRef
CHM1_1644,358,890 - 44,421,686 (+)NCBICHM1_1
Cdc5l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391745,702,809 - 45,744,633 (-)NCBIGRCm39mm39
GRCm39 Ensembl1745,702,810 - 45,744,663 (-)Ensembl
GRCm381745,391,887 - 45,433,707 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1745,391,884 - 45,433,737 (-)EnsemblGRCm38mm10GRCm38
MGSCv371745,528,836 - 45,570,656 (-)NCBIGRCm37mm9NCBIm37
MGSCv361744,855,468 - 44,897,288 (-)NCBImm8
Celera1748,822,530 - 48,866,019 (-)NCBICelera
Cytogenetic Map17B3NCBI
Cdc5l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2915,564,949 - 15,603,453 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl915,564,767 - 15,603,450 (+)Ensembl
Rnor_6.0917,949,764 - 17,988,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl917,949,764 - 17,988,509 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0916,838,171 - 16,876,921 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4911,165,631 - 11,204,135 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1911,162,952 - 11,201,455 (+)NCBI
Celera913,308,462 - 13,346,957 (+)NCBICelera
Cytogenetic Map9q12NCBI
Cdc5l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554379,990,613 - 10,032,034 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554379,990,613 - 10,032,034 (+)NCBIChiLan1.0ChiLan1.0
CDC5L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1645,265,845 - 45,326,392 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl645,265,845 - 45,326,383 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0643,983,840 - 44,043,029 (+)NCBIMhudiblu_PPA_v0panPan3
CDC5L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11212,779,936 - 12,822,978 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1212,780,010 - 12,822,801 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1212,807,973 - 12,851,031 (+)NCBI
ROS_Cfam_1.01213,266,108 - 13,309,161 (+)NCBI
UMICH_Zoey_3.11212,791,651 - 12,835,010 (+)NCBI
UNSW_CanFamBas_1.01212,879,429 - 12,922,495 (+)NCBI
UU_Cfam_GSD_1.01212,973,455 - 13,016,504 (+)NCBI
Cdc5l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494648,262,000 - 48,311,662 (+)NCBI
SpeTri2.0NW_00493647615,647,470 - 15,698,095 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDC5L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl739,384,556 - 39,431,248 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1739,384,397 - 39,427,729 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2745,306,065 - 45,349,669 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDC5L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11727,727,185 - 27,785,233 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1727,722,819 - 27,785,268 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604444,437,105 - 44,495,930 (+)NCBIVero_WHO_p1.0
Cdc5l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475415,477,188 - 15,517,656 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-R38882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,609 - 44,414,757UniSTSGRCh37
Build 36644,522,587 - 44,522,735RGDNCBI36
Celera645,967,664 - 45,967,812RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,118 - 44,137,266UniSTS
GeneMap99-GB4 RH Map6172.14UniSTS
WI-19876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,484 - 44,414,745UniSTSGRCh37
Build 36644,522,462 - 44,522,723RGDNCBI36
Celera645,967,539 - 45,967,800RGD
Cytogenetic Map6p21UniSTS
HuRef644,136,993 - 44,137,254UniSTS
GeneMap99-GB4 RH Map6170.36UniSTS
Whitehead-RH Map6263.6UniSTS
A001V05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,594 - 44,414,735UniSTSGRCh37
Build 36644,522,572 - 44,522,713RGDNCBI36
Celera645,967,649 - 45,967,790RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,103 - 44,137,244UniSTS
GeneMap99-GB4 RH Map6170.36UniSTS
NCBI RH Map6682.8UniSTS
G19678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,594 - 44,414,735UniSTSGRCh37
Build 36644,522,572 - 44,522,713RGDNCBI36
Celera645,967,649 - 45,967,790RGD
Cytogenetic Map6p21UniSTS
HuRef644,137,103 - 44,137,244UniSTS
EST15C11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,414,545 - 44,414,752UniSTSGRCh37
Build 36644,522,523 - 44,522,730RGDNCBI36
Celera645,967,600 - 45,967,807RGD
HuRef644,137,054 - 44,137,261UniSTS
MARC_15357-15358:1017682310:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37644,360,489 - 44,361,278UniSTSGRCh37
Build 36644,468,467 - 44,469,256RGDNCBI36
Celera645,913,600 - 45,914,389RGD
HuRef644,083,040 - 44,083,829UniSTS
D7S2067E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map6p21.1-p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q33.3UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1303
Count of miRNA genes:790
Interacting mature miRNAs:928
Transcripts:ENST00000371477
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1895 1631 1321 350 1224 212 4079 1612 2155 292 1390 1483 151 1131 2630 4
Low 544 1356 405 274 725 253 277 583 1579 126 70 130 24 1 73 158 2 2
Below cutoff 4 2 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000371477   ⟹   ENSP00000360532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl644,387,706 - 44,450,425 (+)Ensembl
RefSeq Acc Id: NM_001253   ⟹   NP_001244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,387,706 - 44,450,425 (+)NCBI
GRCh37644,355,251 - 44,418,161 (+)NCBI
Build 36644,463,280 - 44,522,758 (+)NCBI Archive
HuRef644,077,869 - 44,140,670 (+)NCBI
CHM1_1644,358,890 - 44,421,686 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001244   ⟸   NM_001253
- UniProtKB: Q99459 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360532   ⟸   ENST00000371477
Protein Domains
HTH myb-type

Promoters
RGD ID:7208217
Promoter ID:EPDNEW_H9855
Type:initiation region
Name:CDC5L_1
Description:cell division cycle 5 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38644,387,710 - 44,387,770EPDNEW
RGD ID:6850700
Promoter ID:EP73144
Type:multiple initiation site
Name:HS_CDC5L
Description:CDC5 cell division cycle 5-like (S. pombe).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36644,463,415 - 44,463,475EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 copy number loss See cases [RCV000051011] Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
NM_001253.3(CDC5L):c.1321A>G (p.Arg441Gly) single nucleotide variant Malignant melanoma [RCV000067386] Chr6:44422726 [GRCh38]
Chr6:44390463 [GRCh37]
Chr6:44498441 [NCBI36]
Chr6:6p21.1
not provided
NM_001253.3(CDC5L):c.1416C>T (p.Ser472=) single nucleotide variant Malignant melanoma [RCV000061443] Chr6:44424430 [GRCh38]
Chr6:44392167 [GRCh37]
Chr6:44500145 [NCBI36]
Chr6:6p21.1
not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)x1 copy number loss See cases [RCV000446897] Chr6:43636308..50947320 [GRCh37]
Chr6:6p21.1-12.3
pathogenic
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) single nucleotide variant Congenital anomalies of kidney and urinary tract [RCV000416577] Chr6:44426633 [GRCh38]
Chr6:44394370 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001253.4(CDC5L):c.698A>G (p.Gln233Arg) single nucleotide variant not provided [RCV000678307] Chr6:44403967 [GRCh38]
Chr6:44371704 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001691222] Chr6:44392943 [GRCh38]
Chr6:44360680 [GRCh37]
Chr6:6p21.1
benign
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) single nucleotide variant not provided [RCV001612583] Chr6:44419853 [GRCh38]
Chr6:44387590 [GRCh37]
Chr6:6p21.1
benign
NM_001253.4(CDC5L):c.1854T>C (p.His618=) single nucleotide variant not provided [RCV000970145] Chr6:44426685 [GRCh38]
Chr6:44394422 [GRCh37]
Chr6:6p21.1
benign
NM_001253.4(CDC5L):c.2014C>T (p.Pro672Ser) single nucleotide variant not provided [RCV000782186] Chr6:44429833 [GRCh38]
Chr6:44397570 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1
pathogenic
NM_001253.4(CDC5L):c.929T>C (p.Val310Ala) single nucleotide variant not provided [RCV000918466] Chr6:44408469 [GRCh38]
Chr6:44376206 [GRCh37]
Chr6:6p21.1
likely benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001637333] Chr6:44390147 [GRCh38]
Chr6:44357884 [GRCh37]
Chr6:6p21.1
benign
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys) single nucleotide variant not provided [RCV001643287] Chr6:44387945 [GRCh38]
Chr6:44355682 [GRCh37]
Chr6:6p21.1
benign
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant not provided [RCV001594676] Chr6:44445726 [GRCh38]
Chr6:44413463 [GRCh37]
Chr6:6p21.1
benign
NM_001253.4(CDC5L):c.903+263A>G single nucleotide variant not provided [RCV001541051] Chr6:44406730 [GRCh38]
Chr6:44374467 [GRCh37]
Chr6:6p21.1
benign
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant not provided [RCV001596164] Chr6:44424777 [GRCh38]
Chr6:44392514 [GRCh37]
Chr6:6p21.1
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001640971] Chr6:44406771 [GRCh38]
Chr6:44374508 [GRCh37]
Chr6:6p21.1
benign
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant not provided [RCV001595840] Chr6:44430145 [GRCh38]
Chr6:44397882 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001684854] Chr6:44387962 [GRCh38]
Chr6:44355699 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001685036] Chr6:44392418 [GRCh38]
Chr6:44360155 [GRCh37]
Chr6:6p21.1
benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant not provided [RCV001667955] Chr6:44387686 [GRCh38]
Chr6:44355423 [GRCh37]
Chr6:6p21.1
benign
NM_173500.4(TTBK2):c.452G>A (p.Arg151His) single nucleotide variant not provided [RCV001647690] Chr6:44429544 [GRCh38]
Chr6:44397281 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001691267] Chr6:44387491 [GRCh38]
Chr6:44355228 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001691078] Chr6:44425898 [GRCh38]
Chr6:44393635 [GRCh37]
Chr6:6p21.1
benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant not provided [RCV001648279] Chr6:44423027 [GRCh38]
Chr6:44390764 [GRCh37]
Chr6:6p21.1
benign
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) single nucleotide variant not provided [RCV001696132] Chr6:44392796 [GRCh38]
Chr6:44360533 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001682386] Chr6:44390707 [GRCh38]
Chr6:44358444 [GRCh37]
Chr6:6p21.1
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001614865] Chr6:44445999 [GRCh38]
Chr6:44413736 [GRCh37]
Chr6:6p21.1
benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant not provided [RCV001670998] Chr6:44419780 [GRCh38]
Chr6:44387517 [GRCh37]
Chr6:6p21.1
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant not provided [RCV001691620] Chr6:44387662 [GRCh38]
Chr6:44355399 [GRCh37]
Chr6:6p21.1
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001616718] Chr6:44424279 [GRCh38]
Chr6:44392016 [GRCh37]
Chr6:6p21.1
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001614258] Chr6:44403977 [GRCh38]
Chr6:44371714 [GRCh37]
Chr6:6p21.1
benign
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=) single nucleotide variant not provided [RCV001708887] Chr6:44408182 [GRCh38]
Chr6:44375919 [GRCh37]
Chr6:6p21.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1743 AgrOrtholog
COSMIC CDC5L COSMIC
Ensembl Genes ENSG00000096401 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000360532 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371477 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000096401 GTEx
HGNC ID HGNC:1743 ENTREZGENE
Human Proteome Map CDC5L Human Proteome Map
InterPro Cdc5p/Cef1 UniProtKB/Swiss-Prot
  Homeobox-like_sf UniProtKB/Swiss-Prot
  Myb_dom UniProtKB/Swiss-Prot
  SANT/Myb UniProtKB/Swiss-Prot
KEGG Report hsa:988 UniProtKB/Swiss-Prot
NCBI Gene 988 ENTREZGENE
OMIM 602868 OMIM
Pfam Myb_Cef UniProtKB/Swiss-Prot
PharmGKB PA26270 PharmGKB
PROSITE HTH_MYB UniProtKB/Swiss-Prot
SMART SANT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt CDC5L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q76N46 UniProtKB/Swiss-Prot
  Q99974 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CDC5L  cell division cycle 5 like    cell division cycle 5-like  Symbol and/or name change 5135510 APPROVED
2013-01-22 CDC5L  cell division cycle 5-like    CDC5 cell division cycle 5-like (S. pombe)  Symbol and/or name change 5135510 APPROVED
2011-08-16 CDC5L  CDC5 cell division cycle 5-like (S. pombe)  CDC5L  CDC5 cell division cycle 5-like (S. pombe)  Symbol and/or name change 5135510 APPROVED